ORPHA:370959
Congenital muscular dystrophy with cerebellar involvement
Synonyms: CMD with cerebellar involvement · CMD-CRB
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular dystrophy with cerebellar involvement | CMD with cerebellar involvement · CMD-CRB |
| fr | Dystrophie musculaire congénitale avec atteinte cérébelleuse | CMD avec atteinte cérébelleuse · CMD avec atteinte du cervelet · CMD-CRB · DMC avec atteinte cérébelleuse · DMC avec atteinte du cervelet · Dystrophie musculaire congénitale avec atteinte du cervelet |
| de | Kongenitale Muskeldystrophie mit zerebellärer Beteiligung | CMD mit zerebellärer Beteiligung · CMD-CRB |
| es | Distrofia muscular congénita con afectación cerebelosa | CMD con afectación cerebelosa · CMD-CRB |
| it | Distrofia muscolare congenita con interessamento cerebellare | CMD con coinvolgimento cerebellare · CMD-CRB |
| nl | Congenitale spierdystrofie met cerebellaire betrokkenheid | CMD met cerebellaire betrokkenheid · CMD-CRB |
| pt | Distrofia muscular congénita com envolvimento cerebeloso | CMD com envolvimento cerebeloso · CMD-CRB |
| pl | Wrodzona dystrofia mięśniowa z zajęciem móżdżku | CMD z udziałem móżdżku · CMD-CRB |
| cs | Vrozená svalová dystrofie s postižením mozečku | CMD-CRB · CMD s postižením mozečku |
| uk | Вроджена мязова дистрофія з ураженням мозочка | ВМД із залученням мозочка · CMD-CRB |
| zh | 先天性肌营养不良伴小脑受累 | CMD伴小脑受累 |
| tr | Serebellar tutulumu ile seyreden doğumsal kas distrofisi | CMD-CRB · Serebellar tutulum ile seyreden CMD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606612 | NTBT | validated | |
| OMIM | 613151 | BTNT | validated | |
| OMIM | 613155 | NTBT | validated | |
| OMIM | 613156 | NTBT | validated | |
| OMIM | 615351 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0018277 | E | validated | |
| UMLS | C5190848 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:370953Congenital muscular dystrophy due to dystroglycanopathy
rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POMK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26267 | ENSG00000185900 | 615247 | 8p11.21 | protein O-mannose kinase | 24925318[PMID] |
| FKRP | Disease-causing germline mutation(s) in | Assessed | HGNC:17997 | ENSG00000181027 | 606596 | 19q13.32 | fukutin related protein | 21397493[PMID] |
| GMPPB | Disease-causing germline mutation(s) in | Assessed | HGNC:22932 | ENSG00000173540 | 615320 | 3p21.31 | GDP-mannose pyrophosphorylase B | 23768512[PMID]_21397493[PMID] |
| POMGNT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19139 | ENSG00000085998 | 606822 | 1p34.1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 21397493[PMID] |
| POMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9202 | ENSG00000130714 | 607423 | 9q34.13 | protein O-mannosyltransferase 1 | 21397493[PMID] |
| POMT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19743 | ENSG00000009830 | 607439 | 14q24.3 | protein O-mannosyltransferase 2 | 21397493[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
47 annotations · validated 2019-04-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan | |
| HP:0003560 | Muscular dystrophy | |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan | |
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0001263 | Global developmental delay | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0000238 | Hydrocephalus | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000158 | Macroglossia | |
| HP:0000252 | Microcephaly | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0007260 | Type II lissencephaly | |
| Occasional (29-5%) | ||
| HP:0000525 | Abnormality iris morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000518 | Cataract | |
| HP:0002350 | Cerebellar cyst | |
| HP:0002169 | Clonus | |
| HP:0000589 | Coloboma | |
| HP:0012695 | Decreased thalamic volume | |
| HP:0006899 | Fusion of the cerebellar hemispheres | |
| HP:0001347 | Hyperreflexia | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000485 | Megalocornea | |
| HP:0000545 | Myopia | |
| HP:0002085 | Occipital encephalocele | |
| HP:0006955 | Olivopontocerebellar hypoplasia | |
| HP:0000648 | Optic atrophy | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0002126 | Polymicrogyria | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000568 | Microphthalmia | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301468[PMID]_28688748[PMID]_27576556[PMID]_19299310[PMID]_19067344[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370959
- This record as JSON: /data/d/370959.json